Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Williams syndrome


Other Names for this Disease

  • WBS
  • Williams-Beuren syndrome
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have a patient who may have Williams syndrome. His mother was previously diagnosed with familial Mediterrranean fever, but she has facial features consistent with Williams syndrome. Do Williams syndrome and familial Mediterranean fever share any signs or symptoms?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are the signs and symptoms of Williams syndrome?

The signs and symptoms of Williams syndrome can be variable, but the disorder is generally characterized by mild to moderate intellectual disability, a distinctive facial appearance, and a unique personality that combines over-friendliness and high levels of empathy with anxiety.[1] 

People with Williams syndrome typically have difficulty with visual-spatial tasks such as drawing and assembling puzzles, but they tend to do well on tasks that involve spoken language, music, and learning by repetition (rote memorization). Affected individuals have outgoing, engaging personalities and tend to take an extreme interest in other people. Attention deficit disorder (ADD), problems with anxiety, and phobias are common among people with this disorder.[2]

The most significant medical problem associated with Williams syndrome is a form of cardiovascular disease called supravalvular aortic stenosis (SVAS). SVAS is a narrowing of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). If this condition is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and heart failure. Other problems with the heart and blood vessels, including high blood pressure (hypertension), have also been reported in people with Williams syndrome.[2] 

Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips. Many affected people have dental problems such as small, widely spaced teeth and teeth that are crooked or missing. In older children and adults, the face appears longer and more gaunt.[2]

Additional signs and symptoms of Williams syndrome include abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems and soft, loose skin. Affected children may also have increased calcium levels in the blood (hypercalcemia) in infancy, developmental delays, problems with coordination, and short stature. Medical problems involving the eyes and vision, the digestive tract, and the urinary system are also possible.[2]
Last updated: 11/16/2011

Is Williams syndrome inherited?

Most cases of Williams syndrome are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual. Williams syndrome most often occurs in people with no history of the disorder in their family. Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition.[2] Regardless of family history, an individual with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children.[3]

Last updated: 11/16/2011

What are the signs and symptoms of Familial Mediterranean Fever?

Familial Mediterranean fever (FMF) is characterized by relatively short, usually 1- to 3-day, episodes of fever accompanied by abdominal pain, chest pain, joint pain, pelvic pain, muscle aches, and/or a skin rash.[4] The muscle pain is often confused with fibromyalgia and the joint pain is sometimes confused with gout. The pain symptoms are usually the result of inflammation in the lining of the abdomen, lungs, joints, heart, pelvis, and/or in the membrane that surrounds the brain and spinal cord.[5] Headaches and amyloidosis may also occur.[5] The majority of patients experience their first episode by age 20.[5] The frequency of such attacks is highly variable and the interval between attacks ranges from days to years.[5] The frequency and symptoms experienced during an attack may also change over time.[5] People tend to be symptom-free between attacks.[4]
Last updated: 10/9/2013

Do Williams syndrome and familial Meditteranean fever share any symptoms?

Williams syndrome and familial Mediterranean fever (FMF) are very different disorders which differ largely in regards to causes and symptoms. In reviewing the literature, it appears that the only feature that may be present in individuals with Williams syndrome or FMF would be joint-related issues. Specifically, individuals with Williams syndrome can have abnormalities of connective tissue (tissue that supports the body's joints and organs) such as joint problems, while individuals with familial Mediterranean fever can also have joint problems such as joint pain or tenderness during an episode.[6][7]
Last updated: 6/3/2011

References
Other Names for this Disease
  • WBS
  • Williams-Beuren syndrome
  • WMS
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.